alfa thalassemia syndromes for Lab.students

1. a-thalassemia Syndromes
Developed by-Dr.Abdulrazzaq Othman Alagbare
M.D M.S.c C.P - Lecturer of Hematology and Immunohematology

2. Major (hydrops fetalis) a0
This is the most severe form of α thalassaemia and results from
homozygous state for α0 thalassaemia (- -/- -).
1-All four alpha genes are
deleted;
2-No normal hemoglobins
are produced.
1-80% hemoglobin Bart's (4) produced;
2-Cannot carry oxygen;
3-Incompatible with life;
4-Die in utero or shortly after birth
Alpha-Thalassemia

3. HgbH disease
It is a form of alfa thalassemia and Onset at 6–9 months of the life.
Three alpha genes are deleted.− −/− α
Decrease in alpha chains leads to beta chain excess.
Hemoglobin H (β4), an β chain tetramers precipitate in older red cells and
form red cell inclusions; these red cells are destroyed in spleen
HbH is high oxygen affinity Hb and does not readily deliver oxygen to the
tissues

4. ANEMIA -Dr.Alagbare
HbH disease
CBC result

• Anaemia ( Hb 7–11
g/dL);
• MCV …Low
• MCH….low
Blood film shows
 anisopoikilocytosis,
 hypochromia,
 microcytes,
 and target cells

5. These are asymptomatic forms of α thalassaemias.
They are of two main forms:
Thalassaemia Carrier States
Thalassaemia
trait
(- -/αα) Minor/trait Asymptomatic
• With mild microcytic hypochromic
anemia (decreased MCV and MCH)
• With high RBC count
Thalassaemia trait (-α/αα). Silent carrier

6. Typical clinical and laboratory features in α thalassaemias

7. CBC results in thalassemia
All hemoglopinopathies mainly Hemozygous PBS
show
Microcytosis
Hypochromia
Target cells
Basophilic stippling
NRBC
Increase Reticulocytes count
Increase RBC count
MCV and MCH low
ANEMIA -Dr.Alagbare

8. Thalassaemia Diagnostic tests results
Clinical syndrome Electrophoresis Result
HbA HbA2 HbF Pathological Hb
HbH disease Zero 2% 7% HbH 90%
ANEMIA -Dr.Alagbare

9. Clinical syndrome DNA analysis Result
β - chains a - chains
HbH disease Normal 3a chains are absent
ANEMIA -Dr.Alagbare

10. ‫العالمين‬ ‫رب‬ ‫هلل‬ ‫الحمد‬
‫صالح‬ ‫منا‬ ‫تقبل‬ ‫ربنا‬
‫اعمالنا‬